Evidence map›Paper›PMID 25053660›Full record

ArticleEuropean heart journal2014

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.

Marina Cuchel, Eric Bruckert, Henry N Ginsberg, Frederick J Raal, Raul D Santos, Robert A Hegele, Jan Albert Kuivenhoven, Børge G Nordestgaard, Olivier S Descamps, Elisabeth Steinhagen-Thiessen and 21 more

Open access · hybridAbstract readConsensus Statement
PubMed Full text at PMC Publisher
In one paragraph

Article in European heart journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 401 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
401citing papers in PubMed, 10 pooled it
88.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

401 citing papers in PubMed, 10 syntheses or guidelines pooled it, 1,034 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Guideline
  5. Pooled it
  6. Pooled it
  7. The promising novel therapies for familial hypercholesterolemia.Journal of clinical laboratory analysis · 2022
    Pooled it
  8. Pooled it
  9. Familial hypercholesterolemia - treatment update in children, systematic review.Pediatric endocrinology, diabetes, and metabolism · 2022
    Pooled it
  10. Guideline
  11. Trial
  12. Trial
  13. Trial
  14. Trial
  15. Trial
  16. Article
  17. Review
  18. Aptamer targeting proprotein convertase subtilisin/kexin type 9:Research in pharmaceutical sciences · 2026
    Article
  19. Article
  20. Is FH a curable disease?Global cardiology science & practice · 2026
    Article

341 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

31 authors at 1 institution in 1 country.

Marina CuchelInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA mcuchel@mail.med.upenn.edu.
Eric BruckertInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Henry N GinsbergInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Frederick J RaalInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Raul D SantosInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Robert A HegeleInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Jan Albert KuivenhovenInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Børge G NordestgaardInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Olivier S DescampsInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Elisabeth Steinhagen-ThiessenInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Anne Tybjærg-HansenInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Gerald F WattsInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Maurizio AvernaInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Catherine BoileauInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Jan BorénInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Alberico L CatapanoInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Joep C DefescheInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
G Kees HovinghInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Steve E HumphriesInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Petri T KovanenInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Luis MasanaInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Päivi PajukantaInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Klaus G ParhoferInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Kausik K RayInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Anton F H StalenhoefInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Erik StroesInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Marja-Riitta TaskinenInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Albert WiegmanInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
Olov WiklundInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
M John ChapmanInstitute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.
European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia
Translational Therapeutics (United States) · US

Funding

Systems genomics of metabolic syndrome traitsP01HL028481 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI REUE, KAREN · 1985 to 2019
$50.2M
Genomics of dyslipidemia in MexicansR01HL095056 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PAJUKANTA, PAIVI · 2009 to 2018
$5.9M
British Heart Foundation RG/08/008/25291CIHR MOP-13430CIHR MOP-79523NHLBI NIH HHS P01 HL028481NHLBI NIH HHS R01 HL095056
6 · The paper itself

Abstract

aimsHomozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. METHODS AND

resultsEarly diagnosis of HoFH and prompt initiation of diet and lipid-lowering therapy are critical. Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon xanthomas before 10 years, or untreated elevated LDL-C levels consistent with heterozygous FH in both parents, are suggestive of HoFH. We recommend that patients with suspected HoFH are promptly referred to specialist centres for a comprehensive ACVD evaluation and clinical management. Lifestyle intervention and maximal statin therapy are the mainstays of treatment, ideally started in the first year of life or at an initial diagnosis, often with ezetimibe and other lipid-modifying therapy. As patients rarely achieve LDL-C targets, adjunctive lipoprotein apheresis is recommended where available, preferably started by age 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and, if available, computed tomography coronary angiography every 5 years, or less if deemed necessary.

conclusionThis EAS Consensus Panel highlights the need for early identification of HoFH patients, prompt referral to specialized centres, and early initiation of appropriate treatment. These recommendations offer guidance for a wide spectrum of clinicians who are often the first to identify patients with suspected HoFH.

Indexed as

Anticholesteremic AgentsArcus SenilisAtherosclerosisBlood Component RemovalCardiovascular DiseasesCholesterol, LDLDiagnosis, DifferentialEarly DiagnosisGene FrequencyGenetic HeterogeneityHomozygoteHumansHyperlipoproteinemia Type IILiver TransplantationMutationPedigreeAnticholesteremic AgentsCholesterol, LDLDiagnosisEzetimibeGeneticsHomozygous familial hypercholesterolaemiaLipoprotein apheresisLomitapideMipomersenPhenotypic heterogeneityStatins

Identifiers

PMID25053660
PMCPMC4139706
OpenAlexW2165791625

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.